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Genomic Alleles
HGVS
Genome Assembly
NC_000009.12:g.97675558A= , CM000671.2:g.97675558A=
GRCh38
NC_000009.11:g.100437840A= , CM000671.1:g.100437840A=
GRCh37
NC_000009.10:g.99477661A=
NCBI36
NG_011642.1:g.26852T= , LRG_471:g.26852T=
Transcript Alleles
HGVS
Amino-acid Change
ENST00000375128.5:c.703T=
MANE Select
ENSP00000364270.5:p.Trp235=
ENST00000375128.4:c.703T=
ENSP00000364270.4:p.Trp235=
ENST00000462523.5:c.*139T=
ENSP00000433006.1:n.*139T=
ENST00000485042.1:n.215T=
NM_000380.3:c.703T= , LRG_471t1:c.703T=
NP_000371.1:p.Trp235=
NR_027302.1:n.1051T=
XM_006717278.1:c.703T=
XP_006717341.1:p.Trp235=
XM_011518988.1:c.703T=
XP_011517290.1:p.Trp235=
XR_929839.1:n.1234T=
NM_001354975.1:c.577T=
NP_001341904.1:p.Trp193=
NR_149091.1:n.548T=
NR_149092.1:n.714T=
NR_149093.1:n.1240T=
NR_149094.1:n.1134T=
NM_000380.4:c.703T=
MANE Select
NP_000371.1:p.Trp235=
NM_001354975.2:c.577T=
NP_001341904.1:p.Trp193=
NR_027302.2:n.982T=
NR_149091.2:n.479T=
NR_149092.2:n.645T=
NR_149093.2:n.1171T=
NR_149094.2:n.1065T=